ClinVar Miner

Variants studied for Pyruvate carboxylase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
74 96 238 913 44 2 1296

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PC 72 95 234 902 43 2 1277
LOC130006142, PC 0 1 2 11 0 0 14
LOC130006147, PC 0 0 2 0 1 0 3
LRFN4, PC 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 15 139 901 42 0 1156
Illumina Laboratory Services, Illumina 0 0 73 9 7 0 89
Myriad Genetics, Inc. 0 38 0 0 0 0 38
Baylor Genetics 4 26 7 0 0 0 37
Counsyl 1 6 15 1 0 0 23
Fulgent Genetics, Fulgent Genetics 0 1 10 2 1 0 14
Revvity Omics, Revvity 1 1 10 0 0 0 12
OMIM 9 0 0 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 6 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 2 0 4
Mendelics 0 3 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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